Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 5:147828022 (forward strand) | View in location tab


with HGMD-PUBLIC CM016009

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB SPINK1_194G_A_061411

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, is associated with 1 phenotype and is mentioned in 6 citations.

Variant displays